Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP10A_chr15_25673712_25868327	25815512	T T	TGATCCTC others(298): Show TGATCCTCAATAAACTCTGTTCTCGGAGCTGAAAAAAAGGAGACGTATGA AAAAGACAGTTATGAAAATCTCCATGCATAGCTTGTTGTACACCTCAGAC AGCACTGGACTCCACGGGCTCCGGGCCCCGCTGGGGCCAAACTGCTCTGC AGCCACACAGTGCCTCCCATCACCGGAGCTCCAGTACCCATACACCCCAG CGGCATCTCAGTGTGGACACGCCCTTCTTCCGGCCCCTCAATTCCCTCAG CCCTTCCCACCAGCTCTTCCTTACTTTCCATGCCGGTAAAGACGAGGCAA ACAGAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0019 a0002c0002t0001g0019	1	70	0.0143	305	c.450 others(324): Show c.450-34290_450-34289insTTCTGTTTGCCTCGTCTTTACCGGCA TGGAAAGTAAGGAAGAGCTGGTGGGAAGGGCTGAGGGAATTGAGGGGCCG GAAGAAGGGCGTGTCCACACTGAGATGCCGCTGGGGTGTATGGGTACTGG AGCTCCGGTGATGGGAGGCACTGTGTGGCTGCAGAGCAGTTTGGCCCCAG CGGGGCCCGGAGCCCGTGGAGTCCAGTGCTGTCTGAGGTGTACAACAAGC TATGCATGGAGATTTTCATAACTGTCTTTTTCATACGTCTCCTTTTTTTC AGCTCCGAGAACAGAGTTTATTGAGGATC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25815512	T T	TGATCCTC others(298): Show TGATCCTCAATAAACTCTGTTCTCGGAGCTGAAAAAAAGGAGACGTATGA AAAAGACAGTTATGAAAATCTCCATGTATAGCTTGTTGTACACCTCAGAC AGCACTGGACTCCACGGGCTCCGGGCCCCCCTGGGGCCAAACTGCTCTGC AGCCACACAGTGCCTCCCATCACCGGAGCTCCAGTACCCATACACCCCAG CGGCATCTCAGTGTGGACACGCCCTTCTTCCGGCCCCTCAATTCCCTCAG CCCTTCCCACCAGCTCTTCCTTACTTTCCATGCCGGTAAAGACGAGGCAA ACAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01169.hp1 others(13): Show HG00642.hp2 HG00733.hp1 HG01169.hp1 HG01517.hp1 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02976.hp1 HG03209.hp2 HG03579.hp1 HG06807.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0007 a0008 a0011 a0013 a0016	a0001c0001 a0001c0009 a0002c0002 others(7): Show a0001c0001 a0001c0009 a0002c0002 a0002c0076 a0006c0053 a0007c0070 a0008c0006 a0011c0008 a0013c0010 a0016c0024	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 others(8): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0076t0001 a0006c0053t0001 a0007c0070t0001 a0008c0006t0001 a0011c0008t0001 a0013c0010t0001 a0016c0024t0001	a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0088 others(13): Show a0001c0001t0001g0061 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0228 a0001c0009t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0046 a0002c0002t0001g0244 a0002c0002t0002g0298 a0002c0076t0001g0027 a0006c0053t0001g0021 a0007c0070t0001g0218 a0008c0006t0001g0023 a0011c0008t0001g0197 a0013c0010t0001g0178 a0016c0024t0001g0020	16	85	0.1882	305	c.450 others(324): Show c.450-34290_450-34289insTTCTGTTTGCCTCGTCTTTACCGGCA TGGAAAGTAAGGAAGAGCTGGTGGGAAGGGCTGAGGGAATTGAGGGGCCG GAAGAAGGGCGTGTCCACACTGAGATGCCGCTGGGGTGTATGGGTACTGG AGCTCCGGTGATGGGAGGCACTGTGTGGCTGCAGAGCAGTTTGGCCCCAG GGGGGCCCGGAGCCCGTGGAGTCCAGTGCTGTCTGAGGTGTACAACAAGC TATACATGGAGATTTTCATAACTGTCTTTTTCATACGTCTCCTTTTTTTC AGCTCCGAGAACAGAGTTTATTGAGGATC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25815512	T T	TGATCCTC others(298): Show TGATCCTCAATAAACTCTGTTCTCGGAGCTGAAAAAAAGGAGACGTATGA AAAAGATAGTTATGAAAATCTCCATGCATAGCTTGTTGTACACCTCAGAC AGCACTGGACTCCACGGGCTCCGGGCCCCCCTGGGGCCAAACTGCTCTGC AGCCACACAGTGCCTCCCATCACCGGAGCTCCAGTACCCATACACCCCAG CGGCATCTCAGTGTGGACACGCCCTTCTTCCGGCCCCTCAATTCCCTCAG CCCTTCCCACCAGCTCTTCCTTACTTTCCATGCCGGTAAAGACGAGGCAA ACAGAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp2 HG02615.hp1 HG03225.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0015 a0001c0001 a0007c0015	a0001c0001t0001 a0007c0015t0001 a0001c0001t0001 a0007c0015t0001	a0001c0001t0001g0039 a0007c0015t0001g0026 a0001c0001t0001g0039 a0007c0015t0001g0026	2	71	0.0282	305	c.450 others(324): Show c.450-34290_450-34289insTTCTGTTTGCCTCGTCTTTACCGGCA TGGAAAGTAAGGAAGAGCTGGTGGGAAGGGCTGAGGGAATTGAGGGGCCG GAAGAAGGGCGTGTCCACACTGAGATGCCGCTGGGGTGTATGGGTACTGG AGCTCCGGTGATGGGAGGCACTGTGTGGCTGCAGAGCAGTTTGGCCCCAG GGGGGCCCGGAGCCCGTGGAGTCCAGTGCTGTCTGAGGTGTACAACAAGC TATGCATGGAGATTTTCATAACTATCTTTTTCATACGTCTCCTTTTTTTC AGCTCCGAGAACAGAGTTTATTGAGGATC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20			chr15	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(298): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18944.hp2 NA18941.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0215 a0002c0002t0002g0211 a0002c0002t0002g0215	2	258	0.0078	305	c.723 others(322): Show c.723+6994_723+6995insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BCAS1_chr20_53938541_54075594	54021397	T T	TAAAAAAA others(298): Show TAAAAAAAAAGTACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0320 a0001c0001t0046g0320	1	257	0.0039	305	c.723 others(322): Show c.723+6994_723+6995insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGCATTTTTAGTA GAGACAGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCGTACTTTTTTTTT	BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	4/12			chr20	TogoVar
BIRC5_chr17_78209253_78230635	78210857	T T	TTTTTTTT others(298): Show TTTTTTTTTTTCCGAGACAGAGTTTCACTCTTGTTGCCCAGGCTGGAGTG CAGTGGCGCGATCTTGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCG ATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACTGCAGGCGCGCACCAC CACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATAT TGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTCAGCC TCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCTCTTTTT TCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01069.hp2 others(16): Show HG00099.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01361.hp2 HG01515.hp1 HG01993.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03490.hp2 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG04199.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0031 a0001c0004t0005 a0001c0001t0005 a0001c0001t0031 a0001c0004t0005	a0001c0001t0005g0008 a0001c0001t0005g0052 a0001c0001t0031g0051 others(1): Show a0001c0001t0005g0008 a0001c0001t0005g0052 a0001c0001t0031g0051 a0001c0004t0005g0053	19	430	0.0442	305	c.-34 others(316): Show c.-3460_-3459insTTTTTTTTTTCCGAGACAGAGTTTCACTCTTGTT GCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCACC TCCAGGGTTCAAGCGATTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGACT GCAGGCGCGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGAC AGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGAT CTGCCCACCTCAGCCTCCCAAAGTCCTGGGATTACAGGCGTGAGCCACCG CGCCTGGCTCTTTTTTCTTTC	BIRC5	ENSG00000089685.15	transcript	ENST00000350051.8	protein_coding		3395		chr17	TogoVar
BOK_chr2_241553745_241579131	241570448	G G	GTCTGAGC others(298): Show GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTG AGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAC GTACGGGAGGGAATGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGG GAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGG TGAGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00642.hp1 others(21): Show HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG02004.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02280.hp1 HG02738.hp2 HG03239.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp2 NA18952.hp2 NA18998.hp2 NA19000.hp2 NA19012.hp1 NA19043.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0045	a0001c0001t0006g0004 a0001c0001t0006g0137 a0001c0001t0006g0203 others(15): Show a0001c0001t0006g0004 a0001c0001t0006g0137 a0001c0001t0006g0203 a0001c0001t0006g0205 a0001c0001t0006g0207 a0001c0001t0006g0208 a0001c0001t0006g0215 a0001c0001t0006g0216 a0001c0001t0006g0221 a0001c0001t0006g0236 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0009g0058 a0001c0001t0009g0071 a0001c0001t0009g0073 a0001c0001t0009g0235 a0001c0001t0022g0052 a0001c0001t0045g0085	24	422	0.0569	305	c.513 others(320): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGTGTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGT GGATGGGTGAGCCTCTGAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BPIFC_chr22_32408845_32469446	32423939	T T	TAAAACTC others(298): Show TAAAACTCCACAGCTTTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTG CAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	410	0.0024	305	c.121 others(324): Show c.1218-4536_1218-4535insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTTTCGCCCAAGCT GGACTGCAGTGGCGCTATCCCGGCTCACTGCAAGCTCCGCCTCTTGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCC CACCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAAAGCTGTGGAGTTTT	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar
C1orf87_chr1_59985394_60078770	60004924	G G	GGCAGCTT others(298): Show GGCAGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTTTTGCCCA GGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGG TGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp1 HG01123.hp1 others(1): Show HG00735.hp1 HG01106.hp1 HG01123.hp1 HG01993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 others(1): Show a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0184	4	328	0.0122	305	c.119 others(324): Show c.1193-3769_1193-3768insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAGCTGC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	9/11			chr1	TogoVar
C8orf90_chr8_141509671_141523729	141515302	C C	CCATCCAC others(298): Show CCATCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCC ACCCACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCAC CCACACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCC ATCCATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCAT CCACCCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACC TACCCATCCATCCATCCATCCACCCATCCACCCACCCACCCACCTATCCA TCTATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	2	0.5000	305	c.79+ others(318): Show c.79+533_79+534insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTATCCATCTATTCATCCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(298): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGAGGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA GGGGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	66	0.0152	305	c.104 others(324): Show c.1045+2187_1045+2188insTCCCCCTCCCCCTCCCCTTCCCCTTC CCTGCCCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCA CTCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCC CCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCT CCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCC CCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCT CCCCTTCCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7426179	T T	TAAAAAGG others(298): Show TAAAAAGGTGAGGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCAGCAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	55	0.0182	305	c.439 others(324): Show c.439-41638_439-41637insGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCAGCAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAGGTGAGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA3_chr12_18733119_18744188	18743242	T T	TAGAAAAT others(298): Show TAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	383	0.0026	305	c.40 others(316): Show c.4074_*4075insAGAAAATGGGTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	CAPZA3	ENSG00000177938.5	transcript	ENST00000317658.5	protein_coding		4055		chr12	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(298): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACATGCACGCACACATGCACACAC ACATGCATACATATACACATGCACACAATGTACACACATGCACGCACACA TGCACA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	187	0.0053	305	c.380 others(322): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTG CGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGT GCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCA TGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(298): Show TCCACCCTGACCCTCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCAC CCTGATCCTCTGCTCCACATCTTTAGCCATGTCAGAGGTCCACCCTGGCC CTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCT CCTGACCTGCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCACA TCTTTAGCCATGTCAGAGGTCCACCCTGACCCTCTGCTCCTCACCTGCAG CCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTGACCTGCAGCCATATC AAAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	165	0.0061	305	c.151 others(322): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTGAGGAGCAGAGGGT CAGGGTGGACCTCTGACATGGCTAAAGATGTGGAGCAGAGAGGGTCAGGG TGGCCCTTTGATATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCT CTGACATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTGGACCTCTGACAT GGCTAAAGATGTGGAGCAGAGGATCAGGGTGGACCTCTGACATGGCTGCA GGTCAGGAGCAGAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC171_chr9_15548043_15979037	15831809	A A	ACAAAACT others(298): Show ACAAAACTGCCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0028 a0006c0006t0003g0028	1	237	0.0042	305	c.326 others(326): Show c.3268-14879_3268-14878insTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAAACTGCCTTTT	CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(298): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATTTATATAAATATATATATA ACATATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATTTATATAAATATATATATAACATATA TATATATTTATATAAATATATATATAACATATATATATTTATATAAATAT ATATATAACATATATATATTTATATAAATATATATATAACATATATATAT TTATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	234	0.0043	305	c.-29 others(322): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATTTATATAAATA TATATATAACATATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATTTATATAAATATATATAT AACATATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCSER2_chr10_84323589_84523517	84501837	A A	AAAATATA others(298): Show AAAATATATATATATATATATATATATATATATATACACTCATATATATA TATATACTCATATATATATATATATACTCATATATATATATATATATACT CATATATATATATACTCATATATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATACTCATATATATATATA CTCATATATATATATATACTCATATATATATATATACTCATATATATATA TACTCATATATATATATATATATATATACTCATATATATATATATATATA TATACT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0124 a0002c0002t0003g0124	1	361	0.0028	305	c.232 others(326): Show c.2326-11612_2326-11611insAAATATATATATATATATATATAT ATATATATATACACTCATATATATATATATACTCATATATATATATATAT ACTCATATATATATATATATATACTCATATATATATATACTCATATATAT ATATATATACTCATATATATATATACTCATATATATATATATACTCATAT ATATATATACTCATATATATATATACTCATATATATATATATACTCATAT ATATATATATACTCATATATATATATACTCATATATATATATATATATAT ATACTCATATATATATATATATATATATACT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9			chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCTCCC others(298): Show CCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCTCCC CTCCCCTCCTCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTC CCCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0059 a0001c0001t0020g0059	1	12	0.0833	305	c.-45 others(326): Show c.-455+14578_-455+14579insTCCCCCTCCCCTCCCCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCTCTCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCT TCCCCTCCTCTCCCCTCCCCTCCCCTCTCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH10_chr5_24482100_24649978	24629553	A A	ACCCAAAT others(298): Show ACCCAAATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCC AGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCT GGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0284 a0001c0001t0004g0284	1	288	0.0035	305	c.-12 others(326): Show c.-124+15040_-124+15041insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAGATTTGGG	CDH10	ENSG00000040731.10	transcript	ENST00000264463.8	protein_coding	1/11			chr5	TogoVar
CERS5_chr12_50124289_50172369	50161784	G G	GAAAAAAA others(298): Show GAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19068.hp2 NA19063.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0185 a0001c0001t0013g0188 a0001c0001t0013g0185 a0001c0001t0013g0188	2	84	0.0238	305	c.197 others(322): Show c.197+5316_197+5317insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTTTTTTTT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CNNM2_chr10_102913294_103095222	103048588	G G	GTGACAGG others(298): Show GTGACAGGTTCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGACTACAG GCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCC CGGCCA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG03490.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0057 a0002c0004t0058 a0002c0004t0060 others(1): Show a0002c0004t0057 a0002c0004t0058 a0002c0004t0060 a0002c0004t0061	a0002c0004t0057g0202 a0002c0004t0058g0203 a0002c0004t0060g0197 others(1): Show a0002c0004t0057g0202 a0002c0004t0058g0203 a0002c0004t0060g0197 a0002c0004t0061g0198	4	259	0.0154	305	c.162 others(324): Show c.1622-1103_1622-1102insTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAACTAGG ACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCA CCGCGCCCGGCCATGACAGGTTCATTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103048588	G G	GTGACAGG others(298): Show GTGACAGGTTCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAACTAGGACTACAG GCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CTGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGCGCC CGGCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00733.hp1 HG00735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0059 a0002c0004t0002 a0002c0004t0059	a0002c0004t0002g0201 a0002c0004t0059g0217 a0002c0004t0002g0201 a0002c0004t0059g0217	2	257	0.0078	305	c.162 others(324): Show c.1622-1103_1622-1102insTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAACTAGG ACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCA CCGCGCCCGGCCATGACAGGTTCATTTTT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL13A1_chr10_69796906_69964144	69850404	T T	TAAGAGAC others(298): Show TAAGAGACATCAGGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0308 a0001c0007t0003g0308	1	55	0.0182	305	c.365 others(324): Show c.365-17379_365-17378insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAGAGACATCAGGAG	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	2/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45499520	G G	GCATGGCA others(298): Show GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT GGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCA GAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAA CAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGG CATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCT GCCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(95): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp2 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18990.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0009 a0011 a0012 a0014 a0016 a0017 a0024 a0026 a0027 a0031	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0026 a0001c0031 a0001c0032 a0001c0035 a0001c0051 a0001c0052 a0001c0054 a0001c0060 a0001c0079 a0001c0084 a0001c0086 a0001c0090 a0002c0012 a0002c0064 a0002c0080 a0002c0100 a0003c0088 a0005c0053 a0009c0014 a0011c0049 a0011c0099 a0012c0037 a0014c0082 a0016c0040 a0017c0089 a0024c0065 a0026c0056 a0027c0083 a0031c0063	a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 others(37): Show a0001c0001t0001 a0001c0002t0012 a0001c0003t0001 a0001c0003t0016 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0002 a0001c0005t0006 a0001c0007t0002 a0001c0025t0002 a0001c0026t0001 a0001c0031t0001 a0001c0032t0002 a0001c0035t0001 a0001c0051t0001 a0001c0052t0002 a0001c0054t0002 a0001c0060t0001 a0001c0079t0008 a0001c0084t0001 a0001c0086t0001 a0001c0090t0001 a0002c0012t0004 a0002c0064t0001 a0002c0080t0001 a0002c0100t0001 a0003c0088t0001 a0005c0053t0001 a0009c0014t0001 a0011c0049t0001 a0011c0099t0004 a0012c0037t0009 a0014c0082t0002 a0016c0040t0001 a0017c0089t0011 a0024c0065t0010 a0026c0056t0001 a0027c0083t0002 a0031c0063t0010	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 others(95): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0002t0012g0088 a0001c0003t0001g0013 a0001c0003t0001g0041 a0001c0003t0001g0065 a0001c0003t0001g0069 a0001c0003t0001g0092 a0001c0003t0001g0179 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0205 a0001c0003t0001g0225 a0001c0003t0001g0249 a0001c0003t0001g0252 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0281 a0001c0003t0016g0185 a0001c0004t0001g0008 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0079 a0001c0004t0001g0089 a0001c0004t0001g0140 a0001c0004t0001g0149 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0181 a0001c0004t0001g0196 a0001c0004t0001g0218 a0001c0004t0001g0224 a0001c0004t0001g0253 a0001c0004t0001g0278 a0001c0004t0001g0288 a0001c0004t0003g0265 a0001c0004t0008g0125 a0001c0005t0002g0221 a0001c0005t0002g0227 a0001c0005t0002g0242 a0001c0005t0002g0272 a0001c0005t0006g0157 a0001c0005t0006g0222 a0001c0007t0002g0056 a0001c0007t0002g0133 a0001c0007t0002g0197 a0001c0007t0002g0210 a0001c0007t0002g0223 a0001c0025t0002g0132 a0001c0025t0002g0147 a0001c0026t0001g0182 a0001c0026t0001g0183 a0001c0031t0001g0130 a0001c0031t0001g0134 a0001c0032t0002g0077 a0001c0032t0002g0129 a0001c0035t0001g0033 a0001c0035t0001g0145 a0001c0051t0001g0248 a0001c0052t0002g0055 a0001c0054t0002g0169 a0001c0060t0001g0142 a0001c0079t0008g0189 a0001c0084t0001g0023 a0001c0086t0001g0098 a0001c0090t0001g0251 a0002c0012t0004g0029 a0002c0012t0004g0039 a0002c0012t0004g0180 a0002c0012t0004g0188 a0002c0064t0001g0040 a0002c0080t0001g0240 a0002c0100t0001g0116 a0003c0088t0001g0024 a0005c0053t0001g0061 a0009c0014t0001g0258 a0009c0014t0001g0266 a0009c0014t0001g0271 a0011c0049t0001g0198 a0011c0099t0004g0199 a0012c0037t0009g0200 a0012c0037t0009g0201 a0014c0082t0002g0085 a0016c0040t0001g0095 a0017c0089t0011g0193 a0024c0065t0010g0004 a0026c0056t0001g0091 a0027c0083t0002g0154 a0031c0063t0010g0044	98	243	0.4033	305	c.268 others(324): Show c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGA ACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG CTCCCTCAGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGT GGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATC CCAGGAACAGTGGGGTCAGAGGCTCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45499520	G G	GCATGGCA others(298): Show GCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCAGGAACCTGCG TGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGT GGGAACCCGCGTGGGCTGCCCCACATGGCATCCCAGGAACAGTGGGGTCA GAGGCTCCCTCGGGAACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAA CAGTGGGGTCAGAGGCTCCCTCGGGAACCTGCGTGGGCTGCCCCGCATGG CATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCT GCCCCA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0167	1	146	0.0068	305	c.268 others(324): Show c.2683+1897_2683+1898insAGGAACCTGCGTGGGCTGCCCCGCAT GGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGG CTGCCCCACATGGCATCCCAGGAACAGTGGGGTCAGAGGCTCCCTCGGGA ACCCGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGTGGGGTCAGAGG CTCCCTCGGGAACCTGCGTGGGCTGCCCCGCATGGCATCCCAGGAACAGT GGGGTCAGAGGCTCCCGTGGGAACCCGCGTGGGCTGCCCCACATGGCATC CCAGGAACAGTGGGGTCAGAGGCTCCCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45500695	T T	TGTGTGTG others(298): Show TGTGTGTGTTGGGTGTGTAGTGTGAGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT CGTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02572.hp2 others(1): Show HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02717.hp2	a0008 a0020 a0008 a0020	a0008c0038 a0008c0101 a0020c0093 a0008c0038 a0008c0101 a0020c0093	a0008c0038t0001 a0008c0101t0002 a0020c0093t0015 a0008c0038t0001 a0008c0101t0002 a0020c0093t0015	a0008c0038t0001g0054 a0008c0038t0001g0174 a0008c0101t0002g0003 others(1): Show a0008c0038t0001g0054 a0008c0038t0001g0174 a0008c0101t0002g0003 a0020c0093t0015g0173	4	229	0.0175	305	c.268 others(324): Show c.2683+3057_2683+3058insAGGGTGTGGTTTGGTGTGTGTGTGTT GGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTG GGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGGGGTGTGGTTTGGTGT GTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT CGTTTGGTGTGTGTTGGGTGTGTAGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255826	A A	AGGGGGAA others(298): Show AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0209 a0003c0008t0001g0209	1	294	0.0034	305	c.85- others(322): Show c.85-13093_85-13092insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(298): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	21	0.0476	305	c.510 others(324): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(298): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCAAGCTCCGCCTCCC AGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGG GTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp2 HG02976.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0042 a0002c0002t0002g0143 a0002c0002t0001g0042 a0002c0002t0002g0143	2	227	0.0088	305	c.591 others(320): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(298): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	20	0.0500	305	c.540 others(320): Show c.540+724_540+725insCTTCTTCTTCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCTTCCTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CSMD3_chr8_112217928_113441939	112393888	T T	TTTTTTTT others(298): Show TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCCGGACT GTGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	78	0.0128	305	c.581 others(324): Show c.5810-3101_5810-3100insTCTGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGTGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	35/70			chr8	TogoVar
CSNK1G2_chr19_1936172_1986338	1967793	C C	CATCCTCC others(298): Show CATCCTCCCTCTTCCCTCCTCTCCAGGCTGCCGCCTACCACCCTTCAGTT CTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCCTTC AGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCC ACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCCCA GGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCATCCTC CCTCTTCCCTCCTCTCCAGGCTGCCGCCTACCACCCTTCAGTTCTGCAGG TGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	376	0.0027	305	c.-26 others(324): Show c.-265-1715_-265-1714insATCCTCCCTCTTCCCTCCTCTCCAGG CTGCCGCCTACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCC CCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCT GCAGGTGGGGCTCCTCCATCCTCCCTCTTCCCTCCTCTCCAGGCTGCCGC CTACCACCCTTCAGTTCTGCAGGTGGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1967793	C C	CATCCTCC others(298): Show CATCCTCCCTCTTCCCTCCTCTCCAGGCTGCCGCCTACCACCCTTCAGTT CTGCAGGTGGGGGCTCCTCCCTCCTCCCCAGGCTGCCCCCACCACCTTTC AGTTCTGCAGGTGGGGCTCCTCCCTCCTCCCTCCTCCCCAGGCTGCCCCC ACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCTTCCTCCCTCCTCCCCA GGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCATCCTC CCTCTTCCCTCCTCTCCAGGCTGCCGCCTACCACCCTTCAGTTCTGCAGG TGGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	376	0.0027	305	c.-26 others(324): Show c.-265-1715_-265-1714insATCCTCCCTCTTCCCTCCTCTCCAGG CTGCCGCCTACCACCCTTCAGTTCTGCAGGTGGGGGCTCCTCCCTCCTCC CCAGGCTGCCCCCACCACCTTTCAGTTCTGCAGGTGGGGCTCCTCCCTCC TCCCTCCTCCCCAGGCTGCCCCCACCACCCTTCAGTTCTGCAGGTGGGGC TCCTCCTTCCTCCCTCCTCCCCAGGCTGCCCCCGACCACCCTTCAGTTCT GCAGGTGGGGCTCCTCCATCCTCCCTCTTCCCTCCTCTCCAGGCTGCCGC CTACCACCCTTCAGTTCTGCAGGTGGGGG	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSRNP3_chr2_165464698_165694407	165674048	T T	TAAAAATA others(298): Show TAAAAATAAATCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCA GGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTG GGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA19009.hp2 NA18972.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0076 a0001c0002t0002 a0001c0004t0076	a0001c0002t0002g0244 a0001c0004t0076g0021 a0001c0002t0002g0244 a0001c0004t0076g0021	2	242	0.0083	305	c.409 others(322): Show c.409-2253_409-2252insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGAGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCA CTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATAAATC	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA3_chr10_65907523_67701195	67025885	T T	TAAGAAAA others(298): Show TAAGAAAATGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02622.hp1 HG02717.hp1 others(1): Show HG01070.hp2 HG02622.hp1 HG02717.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0004t0007 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0007 a0002c0002t0004	a0001c0001t0001g0015 a0001c0001t0007g0020 a0001c0004t0007g0005 others(1): Show a0001c0001t0001g0015 a0001c0001t0007g0020 a0001c0004t0007g0005 a0002c0002t0004g0028	4	45	0.0889	305	c.104 others(328): Show c.1047+154431_1047+154432insTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTCCACATTTTCTT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CXCL6_chr4_73831678_73843760	73842184	T T	TAATTATA others(298): Show TAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTTTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCC AAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02735.hp2 NA18978.hp2 HG01516.hp2 HG02735.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	421	0.0071	305	c.45 others(316): Show c.4543_*4544insAATTATACTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTTTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTG	CXCL6	ENSG00000124875.10	transcript	ENST00000226317.10	protein_coding		3425		chr4	TogoVar
CXorf51A_chrX_146809106_146819744	146816232	C C	CCTATATA others(298): Show CCTATATAATTTTATTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	83	0.0120	305	c.-15 others(316): Show c.-1510_-1509insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAATAAAATAAAATTATATAG	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1489		chrX	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(298): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18948.hp1 NA18963.hp1 others(8): Show NA18612.hp1 NA18948.hp1 NA18963.hp1 NA18968.hp1 NA18981.hp1 NA18986.hp2 NA19002.hp1 NA19057.hp2 NA19058.hp2 NA19085.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0097 a0002c0002t0001g0204	11	270	0.0407	305	c.546 others(322): Show c.546+3884_546+3885insTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DCLK2_chr4_150073445_150262438	150251117	T T	TCCCTCAC others(298): Show TCCCTCACACCCCCCCCACACCCCCCACACCACACATCCCTCACACCCCC CACACCCCCCCACACCACACATCCCTCACACCCCCCACACCCCCACACAC CCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACAT CCCTCACACCCCCCACACCCCCCACACCACACATCCCCCACACCCCCCAC ACCACACATCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACA CATCCCTCACACCCCCCACACCCCCCACACCACACATCCCCTCACACCCC CCACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	105	0.0095	305	c.207 others(324): Show c.2073+1436_2073+1437insTCACACCCCCCCCACACCCCCCACAC CACACATCCCTCACACCCCCCACACCCCCCCACACCACACATCCCTCACA CCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCC ACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCC CACACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACAC CACACATCCCCTCACACCCCCCACACCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DCLK2_chr4_150073445_150262438	150251147	C C	CCCACATC others(298): Show CCCACATCTCCCCACACCCCCCACATCCCCACACCCCCATCCCCCACACT CCCCACACCCCCCACACCCCCCACATCCCCACACCACACATCCCTCACAC CCCCCAAATCCCCCACACCCCCCACATCCCCACACCACACATCCCTCACA CCCCCCAAATCCCCCACACCCCCCACATCCCCACACCACACATCCCCCAC ACCCCCCACATCCCCCACACCCCCCACATCCCCACACCACACATCCCCCA CACCCCCCACATCCCCCCACACCCCCACATCCCCCACACCCCCACACACC CCCACA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	81	0.0123	305	c.207 others(324): Show c.2073+1468_2073+1469insTCTCCCCACACCCCCCACATCCCCAC ACCCCCATCCCCCACACTCCCCACACCCCCCACACCCCCCACATCCCCAC ACCACACATCCCTCACACCCCCCAAATCCCCCACACCCCCCACATCCCCA CACCACACATCCCTCACACCCCCCAAATCCCCCACACCCCCCACATCCCC ACACCACACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCC CACACCACACATCCCCCACACCCCCCACATCCCCCCACACCCCCACATCC CCCACACCCCCACACACCCCCACACCACA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132148918	C C	CACCACAC others(298): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC ACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	247	0.0040	305	c.-46 others(316): Show c.-4623_-4622insAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTA GGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTAGGAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT GAGTGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGA GGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGC ACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCACTCAC CGAGGGGATTAGGGGTGTGGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4600		chr12	TogoVar
DENND2C_chr1_114577850_114675049	114658771	A A	ACAGTTCT others(298): Show ACAGTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0273 a0003c0003t0003g0273	1	276	0.0036	305	c.-57 others(324): Show c.-573-4011_-573-4010insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAGAACTG	DENND2C	ENSG00000175984.16	transcript	ENST00000393274.6	protein_coding	1/20			chr1	TogoVar
DGKD_chr2_233349494_233477098	233463515	G G	GTCCTCAC others(298): Show GTCCTCACTCCAGCTTCTCCTCACTCCACGCATCTCCTCACTCCACGCAT CTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCTCACTCCACGCA TCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGC ATCTCTCACTCCACGCATCTTCCTCACTCCACGCATCTCCTCACTCCACG CATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCAC GCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCA CGCATC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	159	0.0063	305	c.318 others(322): Show c.3187-638_3187-637insGCTTCTCCTCACTCCACGCATCTCCTCA CTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATGTCCTC ACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTCCT CACTCCACGCATCTCTCACTCCACGCATCTTCCTCACTCCACGCATCTCC TCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCTC CTCACTCCACGCATCTCCTCACTCCACGCATCTCCTCACTCCACGCATCT CCTCACTCCACGCATCTCCTCACTCCA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIDO1_chr20_62872743_62931505	62875286	A A	ACCCCCAC others(298): Show ACCCCCACCCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCCA CCCCCACCCCCCCACCCCCACCCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCCACCCCCA CCCCCACCCCCACCCCCCCACCCCCACCCGCACCCCCACCCCCACCCCCC ACCCGCACCCCACCCCCACCCCCACCCCCCACCCCCCACCCCCCACCCGC ACCCTCACCCCCACCCCCACCCCTCACCCCCCACCCCCCACACCCGCACC CCGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0242 a0003c0003t0001g0242	1	316	0.0032	305	c.39 others(316): Show c.3946_*3947insGTGCGGGGTGCGGGTGTGGGGGGTGGGGGGTGAG GGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGGTGGGGGGTGGGGGGTG GGGGTGGGGGTGGGGTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GGTGGGGGTGGGGGGGTGGGGGTGGGGGGTGCCGGTGCGGGTGGGGGTGC CGGTGCGGGTGGGGGTGGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2456		chr20	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(298): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	35	0.0286	305	c.101 others(324): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GAAGAAGG others(298): Show GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGA GGGGAGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGA GGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGA GGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAGGGGAGAGGA GGAGAGAAGGAGAGGGGCGGGGCGGGGCAGGGCGGGGCAGGGAGGGGAGG GGCGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp2 HG00609.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0003 a0001c0011t0003 a0001c0002t0003 a0001c0011t0003	a0001c0002t0003g0069 a0001c0011t0003g0088 a0001c0002t0003g0069 a0001c0011t0003g0088	2	35	0.0571	305	c.158 others(322): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTTCTTCTC CCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCGCCTCCTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTC CCCTCCCCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	600463	C C	CAAGCCCT others(298): Show CAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCG GAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGGCCCAGGGTGTG TGGATGCTCCGGAGCGACCCCACAAGCCCTGTCCACCTTAAAGAGGACGG CCCAGGGTGTTCGGATGCTCCGGAGCGACCCCACAGCCCCGTCCACCTTA AAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGACCCCACAAGCCC TGTCCACCTTAAAGAGGACGGCCCAGGGTGTGCGGATGCTCCGGAGCGAC CCCACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0082 a0001c0015t0002g0082	1	88	0.0114	305	c.85+ others(322): Show c.85+89030_85+89031insTGTGGGGTCGCTCCGGAGCATCCGCACA CCCTGGGCCGTCCTCTTTAAGGTGGACAGGGCTTGTGGGGTCGCTCCGGA GCATCCGCACACCCTGGGCCGTCCTCTTTAAGGTGGACGGGGCTGTGGGG TCGCTCCGGAGCATCCGAACACCCTGGGCCGTCCTCTTTAAGGTGGACAG GGCTTGTGGGGTCGCTCCGGAGCATCCACACACCCTGGGCCGTCCTCTTT AAGGTGGACAGGGCTTGTGGGGTCGCTCCGGAGCATCCGCACACCCTGGG CCGTCCTCTTTAAGGTGGACAGGGCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13284608	C C	CAAAACCT others(298): Show CAAAACCTGGTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT AGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0001 a0016c0037t0001	a0016c0037t0001g0077 a0016c0037t0001g0077	1	199	0.0050	305	c.134 others(326): Show c.1348+20660_1348+20661insTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCTATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGAACCAGGTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13284608	C C	CAAAACCT others(298): Show CAAAACCTGGTTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01891.hp1 HG02896.hp2 others(8): Show HG01516.hp1 HG01891.hp1 HG02896.hp2 HG03017.hp2 HG03098.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 NA18906.hp2 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0020 a0023	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0002c0006 a0002c0014 a0005c0008 a0008c0010 a0020c0023 a0023c0044	a0001c0001t0040 a0001c0004t0003 a0002c0002t0001 others(8): Show a0001c0001t0040 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0006t0008 a0002c0014t0008 a0005c0008t0003 a0008c0010t0007 a0020c0023t0023 a0023c0044t0010	a0001c0001t0040g0054 a0001c0004t0003g0014 a0002c0002t0001g0086 others(8): Show a0001c0001t0040g0054 a0001c0004t0003g0014 a0002c0002t0001g0086 a0002c0002t0002g0098 a0002c0002t0010g0013 a0002c0006t0008g0015 a0002c0014t0008g0076 a0005c0008t0003g0020 a0008c0010t0007g0193 a0020c0023t0023g0025 a0023c0044t0010g0067	11	209	0.0526	305	c.134 others(326): Show c.1348+20660_1348+20661insTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAAGAACCAGGTTTT	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	5/17			chr8	TogoVar

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